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Association between polymorphisms in the signal transducer and activator of transcription and dilated cardiomyopathy in the Chinese Han population

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Abstract

The signal transduction pathways mediating the progress of heart failure have been intensively studied. Altered signaling of the signal transducers and activators of transcription (STATs), which play important roles in regulating cell proliferation, differentiation, and apoptosis, has been observed in the heart. We conducted a pilot study to test whether single nucleotide polymorphisms (SNPs) in STATs were associated with dilated cardiomyopathy (DCM). Genotypes of two SNPs of STATs (rs6503691 C/T in exon 1 of STAT5B and rs4796793 C/G in the 5′ region of STAT3) in 251 DCM patients and 484 control subjects were determined with the use of PCR–restriction fragment length polymorphism assay and TaqMan assay, respectively. Significantly increased DCM risk was found to be associated with T allele of rs6503691 (P = 0.012, OR = 1.37, 95% CI = 1.07–1.74). We found that increased DCM risk statistically significantly associated with rs6503691 in a dominant model (P = 0.009, OR = 1.50, 95% CI = 1.11–2.04). No association between DCM risk and rs4796793 was observed (P = 0.706, OR = 1.05, 95% CI = 0.83–1.32). The present pilot study provides evidence that both rs6503691 T allele and CT/TT genotypes, but not rs4796793 C/G in the 5′ region of STAT3, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphism in STATs is associated with DCM.

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Acknowledgments

This work was supported by the National Natural Science Foundation of China (No. 30871044), the Applied Basic Research Programs of Science and Technology Commission Foundation of Sichuan Province (Nos. 2008SZ0174-1, 2010JY0013 and 2010SZ0180), and by Program for Changjiang Scholars and Innovative Research Team in University.

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Authors and Affiliations

  1. Department of Cardiology, West China Hospital of Sichuan University, Chengdu, 610041, People’s Republic of China

    Ying Peng, Yu Chen, Hui Li & Li Rao

  2. Laboratory of Molecular Translational Medicine, West China Institute of Women and Children’s Health, West China Second University Hospital, Sichuan University, Chengdu, 610041, People’s Republic of China

    Bin Zhou, Yanyun Wang, Yaping Song & Lin Zhang

  3. Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People’s Republic of China

    Bin Zhou, Yanyun Wang, Yaping Song & Lin Zhang

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  1. Ying Peng
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  2. Bin Zhou
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Correspondence to Li Rao.

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Ying Peng and Bin Zhou contributed equally to this work.

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Peng, Y., Zhou, B., Wang, Y. et al. Association between polymorphisms in the signal transducer and activator of transcription and dilated cardiomyopathy in the Chinese Han population. Mol Cell Biochem 360, 197–203 (2012). https://doi.org/10.1007/s11010-011-1057-1

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